DUX4 and DUX4 target gene expression in control, 18p- and FSHD1 LCLs. Relative expression of DUX4 (A) and DUX4 targets TRIM43 (B), ZSCAN4 (C), and MBD3L2 (D) in a cohort of control, FSHD1 and 18p- LCLs. Scatter plots show expression levels normalized to GUSB and relative expression level of FSHD1–2 was set to 1. Statistical analysis was done by one way ANOVA followed by Kruskal-Wallis test. * represents p<0.05 (A, B), *** represents p<0.01 (C, D) and **** represents p<0.0001 (A, B).